G73V (p.Gly73Val) variant of CEBPE (Q15744)
G73V (p.Gly73Val) in CEBPE (Q15744) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of CEBPE-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G73V (p.Gly73Val) variant details
- p.Gly73Val
- rs2501820761
- ClinGen CA388953498
- ClinVar RCV003899351
- Uncertain significance
- CEBPE-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.11
- MetaSVM -1.05
- CADD 22.40
- ClinVar: Uncertain significance (CEBPE-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.013)
- Structural context available